Mutagenetix > Incidental Mutation

Incidental Mutation 'R7254:Timd4'

564146

Institutional Source

Beutler Lab

Gene Symbol

Timd4

Ensembl Gene

ENSMUSG00000055546

Gene Name

T cell immunoglobulin and mucin domain containing 4

Synonyms

Tim4, B430010N18Rik, TIM-4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46810800-46844332 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46843189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 340 (I340F)

Ref Sequence

ENSEMBL: ENSMUSP00000069456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068877]

AlphaFold

Q6U7R4

PDB Structure

Tim-4 [X-RAY DIFFRACTION]
Tim-4 in complex with sodium potassium tartrate [X-RAY DIFFRACTION]
Tim-4 in complex with phosphatidylserine [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000068877
AA Change: I340F

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000069456
Gene: ENSMUSG00000055546
AA Change: I340F

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
IG	25	132	3.59e-5	SMART
low complexity region	135	182	N/A	INTRINSIC
low complexity region	248	271	N/A	INTRINSIC
transmembrane domain	279	301	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired macrophage phagocytosis, altered macrophage physiology, and increased peritoneal lymphoid and meyloid cell numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,741,976	I677V	probably benign	Het
4931406B18Rik	A	T	7: 43,498,199	D249E	probably damaging	Het
Acacb	A	C	5: 114,209,751		probably null	Het
Adnp	A	G	2: 168,183,998	V459A	probably damaging	Het
Arid3b	T	C	9: 57,796,754	K304E	probably damaging	Het
Ash1l	G	T	3: 89,070,509	R2713L	probably damaging	Het
Bmpr1a	A	C	14: 34,414,763	D490E	probably benign	Het
Cacna1g	A	T	11: 94,432,567	C1270*	probably null	Het
Cep295nl	G	T	11: 118,333,040	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,406,061	I377V	unknown	Het
Creb1	C	T	1: 64,576,277	Q223*	probably null	Het
Ctsc	G	A	7: 88,309,559	G349D	probably damaging	Het
Ddx41	G	A	13: 55,533,956	R311*	probably null	Het
Dse	T	A	10: 34,184,148		probably benign	Het
Eef2k	C	T	7: 120,889,265	H458Y	probably benign	Het
Gipr	A	T	7: 19,163,613	V90E	probably damaging	Het
Gm14412	A	T	2: 177,317,396	D22E	probably damaging	Het
Gm17018	A	G	19: 45,577,034	Q149R	probably benign	Het
Gm21886	A	T	18: 80,089,735	C69*	probably null	Het
Gm5114	G	A	7: 39,408,966	L410F	probably benign	Het
Gmip	T	A	8: 69,816,468		probably null	Het
Gtf2f1	T	C	17: 57,007,101	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,332,575	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,698,374	W107R	probably damaging	Het
Iars	T	C	13: 49,723,078		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 80,098,331		probably null	Het
Ifi213	G	T	1: 173,593,963	P120Q	probably damaging	Het
Il6	A	T	5: 30,014,908	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,319,487	S196G	probably benign	Het
Kcnv1	C	T	15: 45,113,208	V228I	probably benign	Het
Lars2	A	G	9: 123,454,963	T739A	possibly damaging	Het
Med13	T	C	11: 86,319,835	S494G	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,423,491		probably null	Het
Myh9	T	G	15: 77,765,824	Q1646P	probably damaging	Het
Nif3l1	T	A	1: 58,450,466	S171R	probably benign	Het
Olfr143	T	C	9: 38,253,423	M2T	probably benign	Het
Olfr1467	A	T	19: 13,365,111	D161V	probably benign	Het
Olfr376	A	G	11: 73,375,375	I212V	probably benign	Het
Olfr398	A	G	11: 73,983,777	V277A	probably benign	Het
Olfr564	A	G	7: 102,803,558	T27A	probably benign	Het
Olfr702	A	G	7: 106,823,570	*319Q	probably null	Het
Olfr785	T	C	10: 129,409,780	V138A	probably benign	Het
Pak7	A	T	2: 136,116,764	S135T	possibly damaging	Het
Prr29	A	T	11: 106,374,858	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,594,636	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,695,193	H1310L	probably damaging	Het
Raph1	T	C	1: 60,499,608	S393G	unknown	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ror2	A	G	13: 53,118,720	I303T	possibly damaging	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn10a	C	T	9: 119,618,855	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,993,618	C91S	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Tada1	T	A	1: 166,388,648	C139*	probably null	Het
Tbr1	T	A	2: 61,806,042	V254E	probably damaging	Het
Tubb2a	T	C	13: 34,074,532	Y425C	probably damaging	Het
Wdr60	A	G	12: 116,262,585		probably benign	Het
Zfp292	A	T	4: 34,819,476	M287K	probably damaging	Het

Other mutations in Timd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02140:Timd4	APN	11	46820014	missense	possibly damaging	0.61
IGL02247:Timd4	APN	11	46815731	missense	probably damaging	1.00
IGL02803:Timd4	APN	11	46815694	missense	probably damaging	1.00
IGL02991:Timd4	APN	11	46842147	splice site	probably benign
R0318:Timd4	UTSW	11	46837071	missense	probably benign	0.00
R0427:Timd4	UTSW	11	46819257	missense	probably benign	0.00
R1175:Timd4	UTSW	11	46817671	missense	probably damaging	1.00
R1185:Timd4	UTSW	11	46817648	missense	probably damaging	0.99
R1185:Timd4	UTSW	11	46817648	missense	probably damaging	0.99
R1185:Timd4	UTSW	11	46817648	missense	probably damaging	0.99
R1635:Timd4	UTSW	11	46842162	missense	possibly damaging	0.92
R2011:Timd4	UTSW	11	46820030	missense	possibly damaging	0.79
R2012:Timd4	UTSW	11	46820030	missense	possibly damaging	0.79
R4994:Timd4	UTSW	11	46815517	missense	probably damaging	0.99
R5511:Timd4	UTSW	11	46819980	splice site	probably null
R5739:Timd4	UTSW	11	46817746	missense	probably benign	0.10
R5991:Timd4	UTSW	11	46843203	makesense	probably null
R6207:Timd4	UTSW	11	46815526	missense	probably damaging	0.98
R6863:Timd4	UTSW	11	46815443	nonsense	probably null
R7230:Timd4	UTSW	11	46810864	missense	probably benign	0.01
R7466:Timd4	UTSW	11	46817758	missense	probably benign	0.01
R7750:Timd4	UTSW	11	46815527	missense	probably damaging	1.00
R8777:Timd4	UTSW	11	46815482	missense	possibly damaging	0.49
R8777-TAIL:Timd4	UTSW	11	46815482	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GTGAAAGATTAGCAAAGCTCTCTGTG -3'
(R):5'- CTCTAAAGCACCTTCATGTGGG -3'

Sequencing Primer
(F):5'- TTCCCCATCTGTAGAATAGGAGGC -3'
(R):5'- GCACCTTCATGTGGGAAGATAC -3'

Posted On

2019-06-26